X-linked mental retardation with dystonic movements of the hands

M W Partington; J C Mulley; G R Sutherland; A Hockey; A Thode; G Turner

doi:10.1002/ajmg.1320300127

X-linked mental retardation with dystonic movements of the hands

Am J Med Genet. 1988 May-Jun;30(1-2):251-62. doi: 10.1002/ajmg.1320300127.

Authors

M W Partington¹, J C Mulley, G R Sutherland, A Hockey, A Thode, G Turner

Affiliation

¹ Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, Sydney, New South Wales.

PMID: 3177452
DOI: 10.1002/ajmg.1320300127

Abstract

We describe a family with a syndrome of mental retardation, dystonic movements of the hands and dysarthria inherited in an X-linked recessive pattern. DNA marker studies gave a maximum lod score of 2.11 at theta of 0.00 for DXS41 with a likely localization of the gene to Xpter----Xp21.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Child
Child, Preschool
DNA Probes
Dystonia / genetics*
Female
Genetic Linkage*
Genetic Markers
Hand
Humans
Intellectual Disability / genetics*
Male
Middle Aged
Pedigree
Syndrome
X Chromosome*

Substances

DNA Probes
Genetic Markers